Links from Gene
Items: 1 to 20 of 1312
1.
rs1491462850 has merged into rs869049813 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C
[Show Flanks]
- Chromosome:
- 4:783826
(GRCh38)
4:777614
(GRCh37)
- Canonical SPDI:
- NC_000004.12:783823:CCCC:CC,NC_000004.12:783823:CCCC:CCC
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0./0
(
ALFA)
-=0.00058/1
(Korea1K)
- HGVS:
2.
rs1490996619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:781257
(GRCh38)
4:775045
(GRCh37)
- Canonical SPDI:
- NC_000004.12:781256:T:C
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1488978194 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:780692
(GRCh38)
4:774480
(GRCh37)
- Canonical SPDI:
- NC_000004.12:780691:G:A
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000021/3
(GnomAD)
G=0.5/1
(SGDP_PRJ)
- HGVS:
5.
rs1488239585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:783267
(GRCh38)
4:777055
(GRCh37)
- Canonical SPDI:
- NC_000004.12:783266:C:T
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1487750308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:781469
(GRCh38)
4:775257
(GRCh37)
- Canonical SPDI:
- NC_000004.12:781468:G:A
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
7.
rs1487040583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 4:781851
(GRCh38)
4:775639
(GRCh37)
- Canonical SPDI:
- NC_000004.12:781850:G:A,NC_000004.12:781850:G:C
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
8.
rs1486832221 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCT>-
[Show Flanks]
- Chromosome:
- 4:779879
(GRCh38)
4:773667
(GRCh37)
- Canonical SPDI:
- NC_000004.12:779873:CTCCTCCT:CTCCT
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCCT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
9.
rs1486743499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:782020
(GRCh38)
4:775808
(GRCh37)
- Canonical SPDI:
- NC_000004.12:782019:G:A
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
11.
rs1485089574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:780421
(GRCh38)
4:774209
(GRCh37)
- Canonical SPDI:
- NC_000004.12:780420:C:G
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1484735370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:781005
(GRCh38)
4:774793
(GRCh37)
- Canonical SPDI:
- NC_000004.12:781004:G:A
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1484317012 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 4:781533
(GRCh38)
4:775321
(GRCh37)
- Canonical SPDI:
- NC_000004.12:781532:GGGGG:GGGG
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
14.
rs1483943295 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 4:783289
(GRCh38)
4:777078
(GRCh37)
- Canonical SPDI:
- NC_000004.12:783289:AA:AAA
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
A=0.000156/1
(1000Genomes)
- HGVS:
15.
rs1483524668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:783385
(GRCh38)
4:777173
(GRCh37)
- Canonical SPDI:
- NC_000004.12:783384:T:A
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1482539419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:783045
(GRCh38)
4:776833
(GRCh37)
- Canonical SPDI:
- NC_000004.12:783044:G:A
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
- HGVS:
18.
rs1481434160 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:781204
(GRCh38)
4:774992
(GRCh37)
- Canonical SPDI:
- NC_000004.12:781203:G:A
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000019/1
(GnomAD_exomes)
- HGVS:
19.
rs1481080417 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:779655
(GRCh38)
4:773443
(GRCh37)
- Canonical SPDI:
- NC_000004.12:779654:A:T
- Gene:
- PCGF3-AS1 (Varview), LOC124900163 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS: